ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070931540
Gene: CAPSL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653248.3:p.Arg85Gln
CA3232388
NM_144647.4:c.254G>A